Serra-Prat M, Jovell AJ; International Society of Technology Assessment in Health Care. Meeting.
Annu Meet Int Soc Technol Assess Health Care Int Soc Technol Assess Health Care Meet. 1998; 14: 102.
Catalan Agency for Health Technology Assessment, Barcelona, Catalonia, Spain.
BACKGROUND: Although many countries have implemented a screening program for cystic fibrosis (CF), many uncertainties persist as regards the efficacy of such programs. First, relevant clinical long-term benefits are not well established and should be balanced with costs and potential risks of screening. Second, it remains unclear which screening strategy best combines sensitivity and specificity allowing for acceptable predictive values. The OBJECTIVE of this study is to evaluate the diagnostic accuracy of immunoreactive trypsinogen (IRT) and analysis of DNA mutations in early detection of cystic fibrosis. METHODS: A systematic bibliographic search was performed in Medline, HealthStar, Current Contents and The Cochrane Library databases. Trials studying the sensitivity and specificity of IRT and DNA test in the diagnosis of CF were identified and a review of the bibliographic references of the most relevant papers was also performed. Data from selected studies was extracted according to an established protocol. An overall estimation of the sensitivity and specificity was calculated with a weighted mean approach taking into account the sample size of each study included in this assessment. CF cases with meconium ileus were not included in the analysis since we were interested in the diagnostic accuracy in newborns without a prior high risk. RESULTS: The main results are presented in the following table. sensitivity, specificity, positive predictive value, negative predictive value: IRT: 88.05%, 99.51%, 4.36% (a), 99.99% (a); IRT+IRT (d): 88.89%, 99.97%, 42.04% (b), 99.99% (b); IRT+DNA: 94.22%, 99.94%, 29.80% (c), 99.99% (c). (a) weighted mean prevalence used: 1 case/3,950 newborns. (b) weighted mean prevalence used: 1 case/3,887 newborns. (c) weighted mean prevalence used: 1 case/3,517 newborns. (d) A second IRT test is performed in another blood sample when the first test is positive. CONCLUSION: Two step strategies improve positive predictive values, and therefore, reduce false-positive cases. The IRT/DNA strategy uses the same blood sample for both analyses, so it can potentially reduce parents' levels of anxiety when compared to IRT two-tier strategy, that is, repeating IRT a month later. Further research is needed to confirm these results, but also policy implications for CF screening should be taken into account due to the lack of good evidence on its long-term efficacy and cost-effectiveness.
Publication Types:
Keywords:
- Chromosomes
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA
- DNA Mutational Analysis
- DNA Probes
- Early Diagnosis
- Humans
- Infant, Newborn
- Mass Screening
- Mutation
- Nutritional Status
- Prevalence
- Research
- Sensitivity and Specificity
- Trypsinogen
- United States
- analysis
- genetics
- hsrmtgs
Other ID:
UI: 102237121
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